List of variants in gene CASR reported as likely pathogenic for Neonatal severe primary hyperparathyroidism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)	rs1559955362
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)	rs2107627423
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_000388.4(CASR):c.416T>C (p.Ile139Thr)	rs1060502860
NM_000388.4(CASR):c.493-2A>C	rs1576857818

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